Osteopetrosis is characterized by overly dense bones throughout the body. Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw. Osteopetrosis, Autosomal Recessive; Malignant Infantile Type The most severe type of osteopetrosis, malignant infantile type,  Read More

Amyotrophic lateral sclerosis facts Amyotrophic lateral sclerosis is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles. Amyotrophic lateral sclerosis, or ALS, is sometimes called Lou Gehrig's disease. As many as 20,000 to 30,000 people in the United States have ALS, and an estimated 5,000 people in the United States are diag  Read More

Early signs and symptoms of ankylosing spondylitis might include pain and stiffness in your lower back and hips, especially in the morning and after periods of inactivity. Neck pain and fatigue also are common. Over time, symptoms might worsen, improve or stop at irregular intervals. The areas most commonly affected are: The joint between the base of your spine and your pelvis (sacroiliac) The vertebrae in your  Read More

Antley-Bixler syndrome is typically characterized by structural changes of the skull, bones of the face and other skeletal abnormalities. In most affected infants, there is premature closure of the joints (sutures) between different portions of the skull (craniosynostosis) Additional craniofacial abnormalities may include a large, prominent forehead (frontal bossing), underdeveloped middle regions of the face (midfacial hypoplasia); a large no  Read More

Polymyalgia rheumatica is a rare inflammatory disease characterized by muscle pain (myalgia), stiffness, and additional generalized systemic symptoms such as fatigue, low-grade fever, and/or a general feeling of ill health (malaise). Polymyalgia rheumatica can be a relatively benign condition that is extremely responsive to treatment. In some rare cases, permanent muscle weakness, degeneration and loss (atrophy) of muscle mass, and disability  Read More

Simpson-Golabi-Behmel Syndrome Type 1 Many different parts of the body can be affected when a person has SGBS. Not every person with SGBS has the same symptoms, and none have all of these symptoms. Overall General muscle weakness and low muscle tone (hypotonia) in 61% of people Large size (macrosomia) Head Abnormal shape of the skull due to early bone fusion (craniosynosto  Read More

Campomelic syndrome, long-limb type, is a rare disorder that affects the bones, muscles and cartilage. Symptoms of this condition include abnormal facial features, abnormal hand structure and abnormal joint development. It can also lead to limb deformities, such as clubfoot or curved fingers. In some cases, the affected person may have only one hand with a shortened ulna (forearm bone). There are no known causes f  Read More

There is no cure for connective tissue disease, but there are medications that can help treat symptoms. The first step in treating any type of connective tissue disease is to see your doctor and get a diagnosis. From there, you'll start working with them to find the right treatment plan for your specific condition. That might mean taking medications like steroids or nonsteroidal anti-inflammatory drugs (NSAIDs) to  Read More

Craniofrontonasal dysplasia is a rare genetic disorder that affects the development of the skull, face, and nasal passages. It can also cause other problems like hearing loss. The exact cause of craniofrontonasal dysplasia is unknown, but it's believed to be due to a combination of genes that may be inherited from your parents. There are several risk factors for craniofrontonasal dysplasia:  Read More

Diaphyseal aclasis is a condition in which the bones in your arms and legs thin out and become deformed. It usually occurs in children, but it can also happen to adults. The condition starts early on in life, with symptoms like pain and swelling, but it can get worse over time. Diaphyseal aclasis is caused by an imbalance of calcium, phosphorus, and vitamin D3 in your body. Usually this happens because you don't g  Read More

DMC syndrome is a rare genetic disorder that affects about 1 in 2,500 people. It's characterized by a combination of developmental, muscular and connective tissue disorders that generally appear in early childhood. 1. The condition can cause abnormalities in your body's tissues and organs, including the heart, muscles and bones. It can also affect your blood vessels and nerves. These health issues can make it diff  Read More

Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp. The pelvis is sometimes  Read More

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic illness acquired in an autosomal dominant manner. FSHD affects skeletal muscle groups, including those of the face, shoulder girdle and lower extremities. The development of the symptoms occurs over a long period, typically in the second decade of life. The severity of the disease varies widely across the affected individuals. Men are more severely affected than women  Read More

Flatfoot (pes planus), commonly called flat feet, is a relatively common foot deformity. A flat foot is defined by the loss of the medial longitudinal arch of the foot where it contacts or nearly contacts the ground. The arch connects the forefoot and hindfoot and is formed of elastic ligaments, tendons, and fascia. Its function is to store mechanical energy within the stretched elastic ligaments during the gait cycle. A flat  Read More

Jansen-type metaphyseal chondrodysplasia is a rare disorder of the bones that results in dwarfism, shortening and thickening of the limbs, and abnormal curvature of the spine. It is caused by mutations in a gene, which encodes dysferlin—a protein that plays an important role in cartilage formation. The disease is characterized by delayed skeletal growth with short stature, shortening of the lower extremities  Read More

Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that  Read More

Osteopetrosis is characterized by overly dense bones throughout the body. Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw. Osteopetrosis, Autosomal Recessive; Malignant Infantile Type The most severe type of osteopetrosis, malignant infantile type,  Read More

Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp. The pelvis is sometimes  Read More

Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp. The pelvis is sometimes  Read More

Psoriatic arthritis is a chronic condition classified by a form of inflammatory skin and inflammation in joints (inflammatory arthritis). Affecting males as much as females, this disease shows signs in the fourth and fifth decades of your lifetime. Psoriasis targets the tips of one’s elbows and knees, the scalp and ears, the navel, and around the genital area or anus. Patients with both arthritis and psorias  Read More

Skeletal dysplasia, weismann netter stuhl, commonly known as Weismann-Netter-Stuhl syndrome, is an extremely rare genetic skeletal disorder characterized by the abnormal development of bone (osseousbo dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other bones may also be affected, such as  Read More

Three M syndrome is an extremely rare inherited disorder characterized by low birth weight, delayed bone age, and short stature; characteristic malformations of the head and facial (craniofacial) area; and/or finger (digital) and/or skeletal malformations. In most cases, infants with Three M syndrome are unusually small and have a low birth weight despite being carried to term. This is due to growth delays during fetal development (int  Read More

The valgus calcaneus is one of the most common foot deformities in children (problem with the shape of the foot) wherein the foot points upward and outward. In extreme cases, the top of the foot touches the front of the lower leg. Calcaneovalgus causes the baby no pain and often goes away on its own.Signs and symptoms:1. The condition is congenital, meaning your child was born with it. It may affect one or bo  Read More

Weismann-Netter syndrome is an extremely rare genetic skeletal disorder characterized by the abnormal development of bone (osseous dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other bones may also be affected, such as the ribs, pelvis, spinal column, and/or bones in the arms. Affected in  Read More